Genetic heterogeneity of Meckel syndrome.

doi:10.1136/jmg.34.12.1003

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Article

Genetic heterogeneity of Meckel syndrome.

Journal of medical genetics - 1 Dec 1997

Roume J, Ma H W, Le Merrer M, Cormier-Daire V, Girlich D, Genin E, Munnich A

Abstract excerpt

Meckel syndrome (MKS) is a lethal, autosomal recessive condition characterised by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia, fibrotic changes of the liver in the portal area with ductal proliferation, and postaxial polydactyly. Recently, a MKS gene has been ma...

Topics

Abnormalities, Multiple
Encephalocele
Female
Genetic Variation
Humans
Male
Pedigree
Polycystic Kidney Diseases
Polydactyly

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